ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.2581G>A (p.Val861Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306134 SCV002599862 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002306134 SCV003506531 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047714 SCV004898311 uncertain significance Inborn genetic diseases 2023-10-06 criteria provided, single submitter clinical testing The c.2581G>A (p.V861I) alteration is located in exon 17 (coding exon 17) of the LONP1 gene. This alteration results from a G to A substitution at nucleotide position 2581, causing the valine (V) at amino acid position 861 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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